Congenital disorder

parents of a child, or after 18 years, the newborn child would have a chance to request the department not to use the samples for research purposes and/or destroy the samples. The bill would help to determine phenylketonuria, the hereditary and congenital diseases, including, but not limited to, Biotinidase deficiency and cystic fibrosis (AB-170, 2015). The early prevention process would help to determine the causes of intellectual disabilities or physical defects. Furthermore, the process

it that much more complicated for the cardiologist to correct. Without the advancements made in cardiology, this diagnosis would mean certain death to the postnatal child. The congenital defects of tetralogy of Fallot was named after a French physician, Louis Arthur Etienne Fallot in 1888. Fallot referred to the congenital condition as “La Maladie Bleu” because of the cyanotic appearance of the patients. [Bailliard, OJRD] Fallot made significant advances in understanding the defects and how this

Challenges Parents Face Having Children with Congenital Heart Disease With medical and technological advancements, infant and child mortality rates have decreased over the years, but congenital heart disease is still a leading contributor to these mortality rates. Children with congenital heart disease undergo more severe and rapid medical treatment putting their parents through even harder times. These issues are worth exploring because congenital heart disease is an ongoing illness that has more

resulting in fetal congenital heart block (Satoh, 2012). This complication is fatal in approximately one in five infants, and the surviving infants will face life-long heart complications including, but not limited to, the necessity of pacemaker use and further surgery. It is estimated that 1 in 50 women who are anti-Ro positive will have a fetus that develops congenital heart block. The antibody anti-Ro is an anti-nuclear

Congenital heart disease’s incidence depends on how the population is studied. With better diagnosis through the introduction of echocardiography the incidence figures of congenital heart diseases has raised from the range of 5-8 per 1000 live births to 8-12 per 1000 live births (Hoffman JIE, 2013). All the countries have similar incidence of congenital heart disease. Some minor differences in types of congenital heart disease by country are there. China and Japan for example have a higher

Emanuel Syndrome is a congenital chromosomal disorder that can disrupt the development of multiple parts of the entire body. Though numbers are growing, in 2012, over 200 causes of Emanuel Syndrome have been reported in the United States (Zaki, Mohamed, Kamel, El-Gerzway & El-Ruby, 2012). The numbers of those diagnosed with this disorder are low due to the low incidence of this population, but also because of how new this disorder is. In 2004, Emanuel Syndrome officially got its name (Chromosome

Congenital adrenal hyperplasia is a well-known autosomal recessive disorder and the vast majority, approximately 95%, of cases are due to a deficiency of 21-alpha-hydroxylase. The other common type of CAH is caused by a deficiency of 11-beta-hydroxylase. In both types of the disorder, the adrenal gland is unable to produce sufficient amounts of cortisol and aldosterone. CAH is estimated to manifest in 1 of every 15,000 live births. In the United States, the prevalence of the disorder is lower in

birth defects. Birth defects not only affect the child but also the family and friends surrounding him/her. These disorders such as Down Syndrome,Phenylketonuria, Spina Bifida, etc. affect the children and his/her families when the defect isn't treated properly with medications and/or alternative treatments. Trisomy 21 most commonly known as Down syndrome is a genetic disorder that causes abnormal cell division resulting an extra genetic material forming a twenty-first chromosome. No one knows

“Ebstein’s anomaly is a rare cardiac anomaly that occurs in approximately one in 20,000 live births and accounts for less than 1% of all congenital heart disease (Ebstein’s anomaly in adults)”. The goal of this paper is to examine Ebstein’s Anomaly - to understand what it is, how it affects the heart, possible presenting symptoms, and other possible complications associated with this anomaly. Diagnosis of this anomaly is key in treating patients, thus echocardiographic as well as other test modalities

Congenital Adrenal Hyperplasia (CAH) is a family of autosomal recessive disorders caused by impairment of biosynthesis of cortisol, aldosterone, and androgens. More than 85-90% of CAH is due to 21-hydroxylase deficiency. This is due to the defect in 2 genes-CYP21P and CYP21. 90% of the mutated forms causing 21-hydroxylase deficiency and they all recombination between CYP21 and CYP21P. Clinically they all are divided into two forms deficiency are described- the classical form, which is subdivided